Previous symbols: MHP2. Aliases: FHM2.
ai-gene-review has this gene at status DRAFT; the description is shown only once the review is complete. Read the draft upstream.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Familial Hemiplegic Migraine | causative germline loss of function |
mechanism: Astrocytic Na+/K+-ATPase Alpha2 Loss of Function
subtype: FHM2
animal model: Atp1a2 W887R knock-in mouse (FHM2)
scoped to subtype: FHM2
|
| Genetic Developmental and Epileptic Encephalopathy | causative |
mechanism: Genetic Lesion Beyond the Channelopathies
subtype: DEE98
scoped to subtype: DEE98
|
| Migraine | causative germline |
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| hemiplegic migraine-developmental and epileptic encephalopathy spectrum MONDO:0100539 | AD | Definitive 2024-01-16 |
no dismech entry |
| fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies MONDO:0859204 | AR | Definitive 2025-07-01 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.